Reduced Excitatory Neurotransmission and Mild Autism-Relevant Phenotypes in Adolescent Shank3 Null Mutant Mice
Open accessAbstract
Mutations in the synaptic scaffolding protein gene SHANK3 are strongly implicated in autism and Phelan–McDermid 22q13 deletion syndrome. The precise location of the mutation within the Shank3 gene is key to its phenotypic outcomes. Here, we report the physiological and behavioral consequences of null and heterozygous mutations in the ankyrin repeat domain in Shank3 mice. Both homozygous and heterozygous mice showed reduced glutamatergic transmission and long-term potentiation in the hippocampus with more severe deficits detected in the homozygous mice. Three independent cohorts were evaluated for magnitude and replicability of behavioral endophenotypes relevant to autism and Phelan–McDermid syndrome. Mild social impairments were detected, primarily in juveniles during reciprocal interactions, while all genotypes displayed normal adult sociability on the three-chambered task. Impaired novel object recognition and rotarod performance were consistent across cohorts of null mutants. Repetitive self-grooming, reduced ultrasonic vocalizations, and deficits in reversal of water maze learning were detected only in some cohorts, emphasizing the importance of replication analyses. These results demonstrate the exquisite specificity of deletions in discrete domains within the Shank3 gene in determining severity of symptoms.
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Deletion of Shank3 has been reported to inhibit LTP.
“Deletion of Shank3 has been reported to inhibit LTP (164–166).”
From Synaptic memory and CaMKII (2023) · cites this paper as [165]
Variable performances were noted in different cohorts of Δe4-9B−/− mice.
“Variable performances were noted in different cohorts of Δe4-9B−/− mice (Yang et al., 2012).”
From Modeling Autism by SHANK Gene Mutations in Mice (2013) · cites this paper as Yang et al., 2012
NMDA receptor-dependent LTD and mGluR-dependent LTD are not affected in CA1 hippocampus of ex4-9B mice.
“NMDA receptor-dependent long-term depression (LTD) induced by low frequency stimulus and mGluR-dependent LTD induced by PP-LFS were not affected in CA1 hippocampus of ex4-9B mice”
From Modeling Autism by SHANK Gene Mutations in Mice (2013) · cites this paper as Yang et al., 2012
Synaptic transmission is reduced at hippocampal CA1 synapses of Δex4-9B+/− and Δex4-9B−/− mice, but not in Δex4-9J−/− or Δex13-16−/− mice.
“synaptic transmission is reduced at hippocampal CA1 synapses of Δex4-9B+/− (Bozdagi et al., 2010) and Δex4-9B−/− (Yang et al., 2012), but not in Δex4-9J−/− (Wang et al., 2011) or Δex13-16−/− mice (Peca et al., 2011)”
From Modeling Autism by SHANK Gene Mutations in Mice (2013) · cites this paper as Yang et al., 2012
Prepulse inhibition is not affected in Δex4-9J−/− and Δex4-9B−/− mice.
“Prepulse inhibition (PPI) is not affected in Δex4-9J−/− (Wang et al., 2011) and Δex4-9B−/− (Yang et al., 2012) mice”
From Modeling Autism by SHANK Gene Mutations in Mice (2013) · cites this paper as Yang et al., 2012
Reduced ultrasonic vocalizations in adult were reported in Δex4-9B mice.
“Reduced ultrasonic vocalizations adult were also reported in Δex4-9B (Bozdagi et al., 2010; Yang et al., 2012).”
From Modeling Autism by SHANK Gene Mutations in Mice (2013) · cites this paper as Yang et al., 2012
Hippocampal LTP is reduced at CA1 synapses of Δex4-9J−/− and Δex4-9B mice.
“Hippocampal LTP was reduced at CA1 synapses of Δex4-9J−/− and Δex4-9B but not examined in Δex11−/− and Δex13-16−/− animals”
From Modeling Autism by SHANK Gene Mutations in Mice (2013) · cites this paper as Yang et al., 2012
Repetitive behaviors measured by increased self-grooming and behavioral inflexibility in reverse Morris water maze were observed in Δex4-9J−/− and Δex4-9B−/− mice.
“Repetitive behaviors measured by increased self-grooming in the home cage and behavioral inflexibility in the reverse Morris water maze were observed in Δex4-9J−/− (Wang et al., 2011) and Δex4-9B−/− mice”
From Modeling Autism by SHANK Gene Mutations in Mice (2013) · cites this paper as Yang et al., 2012
Impaired performance in Morris water maze is seen in Δex4-9J−/− mice but not in Δex13-16−/− and Δex4-9B−/− animals.
“Impaired performance in the Morris water maze task was seen in Δex4-9J−/− mice (Wang et al., 2011) but not in Δex13-16−/− (Peca et al., 2011) and Δex4-9B−/− animals (Yang et al., 2012).”
From Modeling Autism by SHANK Gene Mutations in Mice (2013) · cites this paper as Yang et al., 2012
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- Authors
- Yang, M., Bozdagi, O., Scattoni, M. L., Wöhr, M., Roullet, F. I., Katz, A. M., Abrams, D. N., Kalikhman, D., Simon, H., Woldeyohannes, L., Zhang, J. Y., Harris, M. J., Saxena, R., Silverman, J. L., Buxbaum, J. D., & Crawley, J. N.
- Affiliations
- National Institutes of Health (US)
- Icahn School of Medicine at Mount Sinai (US)
- ORCID
- Venue
- The Journal of Neuroscience
- Publisher
- Society for Neuroscience
- Published
- 2012-05-09
- Volume
- 32
- Issue
- 19
- Pages
- 6525-6541
- ISSN
- 0270-6474 (ISSN-L)
- 1529-2401
- PMC
- PMC3362928
- OpenAlex
- W2054356301
- Cited by
- 369
- References
- 79
- Citations by year
- 2026: 12 · 2025: 7 · 2024: 17 · 2023: 18 · 2022: 28 · 2021: 46 · 2020: 25 · 2019: 22 · 2018: 30 · 2017: 31 · 2016: 32 · 2015: 38 · 2014: 26 · 2013: 25 · 2012: 12
- FWCI
- 19.41
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- Journal of Neuroscience (publishedVersion, cc-by-nc-sa)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institutes of Health (Z99 MH999999)
- National Institute of Mental Health (R01MH093725)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Neuroscience and Neuropharmacology Research
- Keywords
- SHANK3, autism spectrum disorder, Phelan-McDermid syndrome, 22q13 deletion, ankyrin repeat domain, synaptic scaffolding proteins, glutamatergic neurotransmission, long-term potentiation, hippocampus, social behavior, novel object recognition, ultrasonic vocalizations, self-grooming, water maze learning, adolescent mice
- MeSH terms
- Age Factors, Animals, Autistic Disorder, Carrier Proteins, Female, Genetic Carrier Screening, Homozygote, Male, Mice, Inbred C57BL, Microfilament Proteins, Mutation, Nerve Tissue Proteins, Neural Inhibition, Synaptic Transmission, Phenotype, Mice, Knockout, Glutamic Acid, Excitatory Postsynaptic Potentials, Mice
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